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白细胞介素-17 基因多态性与中国汉族人群的 Vogt-Koyanagi-Harada 综合征相关,但与 Behçet 病无关。

Interleukin-17 gene polymorphism is associated with Vogt-Koyanagi-Harada syndrome but not with Behçet's disease in a Chinese Han population.

机构信息

The First Affiliated Hospital of Chongqing, Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China.

出版信息

Hum Immunol. 2010 Oct;71(10):988-91. doi: 10.1016/j.humimm.2010.06.020. Epub 2010 Jul 8.

Abstract

Interleukin (IL)-17 has been shown to play an important role in certain autoimmune diseases. The present study was performed to investigate the association of IL-17A and IL-17F gene polymorphisms with two autoimmune uveitis entities, Vogt-Koyanagi-Harada (VKH) syndrome and Behçet's disease (BD), in a Chinese Han population. A total of 362 BD patients, 385 VKH syndrome patients, and 412 controls were genotyped for IL-17A/rs2275913 and IL-17F/rs763780 using polymerase chain reaction-restricted fragment length polymorphism. The result showed that the genotype and allele distribution of the two single nucleotide polymorphisms (SNPs) in all subjects were in Hardy-Weinberg equilibrium. A significantly decreased frequency of IL-17F/rs763780 C allele (p = 0.006, p(c) = 0.036) and an increased frequency of TT genotype (p = 0.005, p(c) = 0.030) were observed in VKH patients compared with normal controls. There was no association of the tested two SNPs with BD, even after adjusting gender ratio. Stratification analysis failed to find any association of extraocular manifestations of two uveitis entities and the tested two SNPs. The C allele and TT genotype of rs763780 in the IL-17F gene appear to be associated with protection and susceptibility to VKH syndrome. The tested two IL-17 SNPs are not found to be associated with Behçet's disease.

摘要

白细胞介素 (IL)-17 已被证明在某些自身免疫性疾病中发挥重要作用。本研究旨在探讨白细胞介素 17A (IL-17A) 和白细胞介素 17F (IL-17F) 基因多态性与中国人两种自身免疫性葡萄膜炎实体,即 Vogt-小柳原田综合征 (VKH 综合征) 和贝赫切特病 (BD) 之间的关联。共对 362 例 BD 患者、385 例 VKH 综合征患者和 412 例对照进行 IL-17A/rs2275913 和 IL-17F/rs763780 的聚合酶链反应限制片段长度多态性基因分型。结果表明,所有受试者中两个单核苷酸多态性 (SNP) 的基因型和等位基因分布均处于 Hardy-Weinberg 平衡状态。与正常对照组相比,VKH 患者中 IL-17F/rs763780 C 等位基因 (p = 0.006,p(c) = 0.036) 的频率显著降低,TT 基因型的频率增加 (p = 0.005,p(c) = 0.030)。即使在调整性别比例后,所测试的两个 SNP 与 BD 之间也没有关联。分层分析未能发现两种葡萄膜炎实体的眼部外表现与所测试的两个 SNP 之间存在任何关联。IL-17F 基因中的 rs763780 的 C 等位基因和 TT 基因型似乎与 VKH 综合征的保护和易感性相关。所测试的两个 IL-17 SNP 与贝赫切特病无关。

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